Canonical Allele Identifier: CA2741212933
Gene: KMT2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118491092_118491093insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT , CM000673.2:g.118491092_118491093insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT GRCh38
NC_000011.9:g.118361807_118361808insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT , CM000673.1:g.118361807_118361808insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT GRCh37
NC_000011.8:g.117867017_117867018insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT NCBI36
NG_027813.1:g.59603_59604insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT , LRG_613:g.59603_59604insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000531904.7:c.4796-104_4796-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT ENSP00000432391.3:n.4796-104_4796-103insGACACGGCCTGCGCTTCCCGC...
ENST00000710560.1:c.4796-104_4796-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT ENSP00000518343.1:n.4796-104_4796-103insGACACGGCCTGCGCTTCCCGC...
ENST00000685498.1:c.473-104_473-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT ENSP00000509293.1:n.473-104_473-103insGACACGGCCTGCGCTTCCCGCCC...
ENST00000691053.1:c.4697-104_4697-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT ENSP00000509168.1:n.4697-104_4697-103insGACACGGCCTGCGCTTCCCGC...
ENST00000389506.10:c.4697-104_4697-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT ENSP00000374157.5:n.4697-104_4697-103insGACACGGCCTGCGCTTCCCGC...
ENST00000534358.8:c.4697-104_4697-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT MANE Select ENSP00000436786.2:n.4697-104_4697-103insGACACGGCCTGCGCTTCCCGC...
ENST00000649699.1:c.4583-104_4583-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT ENSP00000496927.1:n.4583-104_4583-103insGACACGGCCTGCGCTTCCCGC...
ENST00000389506.9:c.4697-104_4697-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT ENSP00000374157.5:n.4697-104_4697-103insGACACGGCCTGCGCTTCCCGC...
ENST00000392873.3:c.833-104_833-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT ENSP00000376612.3:n.833-104_833-103insGACACGGCCTGCGCTTCCCGCCC...
ENST00000534358.5:c.4697-104_4697-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT ENSP00000436786.1:n.4697-104_4697-103insGACACGGCCTGCGCTTCCCGC...
NM_001197104.1:c.4697-104_4697-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT , LRG_613t1:c.4697-104_4697-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT NP_001184033.1:n.4697-104_4697-103insGACACGGCCTGCGCTTCCCGCCCG...
NM_005933.3:c.4697-104_4697-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT NP_005924.2:n.4697-104_4697-103insGACACGGCCTGCGCTTCCCGCCCGGAT...
XM_006718839.2:c.2180-104_2180-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT XP_006718902.2:n.2180-104_2180-103insGACACGGCCTGCGCTTCCCGCCCG...
XM_011542829.1:c.4796-104_4796-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT XP_011541131.1:n.4796-104_4796-103insGACACGGCCTGCGCTTCCCGCCCG...
XM_011542830.1:c.4793-104_4793-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT XP_011541132.1:n.4793-104_4793-103insGACACGGCCTGCGCTTCCCGCCCG...
XM_011542831.1:c.4796-104_4796-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT XP_011541133.1:n.4796-104_4796-103insGACACGGCCTGCGCTTCCCGCCCG...
XM_011542832.1:c.2603-104_2603-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT XP_011541134.1:n.2603-104_2603-103insGACACGGCCTGCGCTTCCCGCCCG...
XM_011542833.1:c.2279-104_2279-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT XP_011541135.1:n.2279-104_2279-103insGACACGGCCTGCGCTTCCCGCCCG...
XM_006718839.3:c.2180-104_2180-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT XP_006718902.2:n.2180-104_2180-103insGACACGGCCTGCGCTTCCCGCCCG...
XM_011542829.2:c.4796-104_4796-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT XP_011541131.1:n.4796-104_4796-103insGACACGGCCTGCGCTTCCCGCCCG...
XM_011542830.2:c.4793-104_4793-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT XP_011541132.1:n.4793-104_4793-103insGACACGGCCTGCGCTTCCCGCCCG...
XM_011542831.2:c.4796-104_4796-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT XP_011541133.1:n.4796-104_4796-103insGACACGGCCTGCGCTTCCCGCCCG...
XM_011542833.2:c.2279-104_2279-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT XP_011541135.1:n.2279-104_2279-103insGACACGGCCTGCGCTTCCCGCCCG...
NM_001197104.2:c.4697-104_4697-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT MANE Select NP_001184033.1:n.4697-104_4697-103insGACACGGCCTGCGCTTCCCGCCCG...
NM_005933.4:c.4697-104_4697-103insGACACGGCCTGCGCTTCCCGCCCGGATCAATCCTGTGGGTGTTCTTCCTGGCGTGGGTGCTGGCCTCGATGACGATGCTCGACACGGGCGGGCGCGTCATTGGCGCGTTCT NP_005924.2:n.4697-104_4697-103insGACACGGCCTGCGCTTCCCGCCCGGAT...